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Article

GJB2 mutations: Genotypic and phenotypic correlation in a cohort of 690 hearing-impaired patients, toward a new mutation?

International journal of pediatric otorhinolaryngology - 1 Nov 2017

Leclère Jean-Christophe, Le Gac Marie-Suzanne, Le Maréchal Cedric, Ferec Claude, Marianowski Rémi

Abstract excerpt

OBJECTIVES: To analyze the clinical features of hearing impairment and to search for correlations with the genotype in patients with GJB2 mutations. DESIGN: Case series. SETTING: Collaborative study in referral centers, institutional practice. PATIENTS: A total of 690 hearing-impaired patients were genotypically and phenotypically described. The mutations of GJB2 and GJB6 were studied. Heterozygous patients were...

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Source

Identifiers

PMID: 29106882
DOI: 10.1016/j.ijporl.2017.09.011

Genes

GJB2
GJB6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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